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variants: 1231984

One row per variant. Variant_ID = Chromosome:Position:Ref:Alt (GRCh38). Allele frequencies are gnomAD v4.1 joint (joint + 8 ancestries). Free-text search box covers rsID, gene symbol and amino-acid change.

Data license: Apache License 2.0

This data as json

rowid Variant_ID RSID Chromosome Position Reference_Allele Alternate_Allele Joint_AF African_AF Admixed_American_AF Ashkenazi_Jewish_AF East_Asian_AF Finnish_AF Middle_Eastern_AF Non_Finnish_European_AF South_Asian_AF ENCODE_cCRE_Annotation Repeat_Name Repeat_Class Repeat_Family Functional_Annotation Gene Gene_Detail Exonic_Function Amino_Acid_Change PhastCons_100way PhyloP_100way Evo2_7B_NoRC_Ref Evo2_7B_NoRC_Alt Evo2_7B_NoRC_Delta Evo2_7B_AvgRC_Ref Evo2_7B_AvgRC_Alt Evo2_7B_AvgRC_Delta Evo2_7B_WeightedRC_Ref Evo2_7B_WeightedRC_Alt Evo2_7B_WeightedRC_Delta Evo2_40B_NoRC_Ref Evo2_40B_NoRC_Alt Evo2_40B_NoRC_Delta Evo2_40B_AvgRC_Ref Evo2_40B_AvgRC_Alt Evo2_40B_AvgRC_Delta Evo2_40B_WeightedRC_Ref Evo2_40B_WeightedRC_Alt Evo2_40B_WeightedRC_Delta MAF_tier AF_bin SCREEN_V4_Classes SCREEN_V4_Accessions SCREEN_V4_Overlap_Count
1231984 12:129105674:C:A rs10847769 12 129105674 C A 0.30822 0.156259 0.34359 0.400576 0.432171 0.355877 0.327586 0.360398 0.413414 Intronic L1PA3 LINE L1 intronic TMEM132D       0.279 0.058 -31405.2890625 -31444.078125 -38.7890625 -31777.8920898438 -31803.1538085938 -25.26171875 -29260.7889037292 -29291.101515113 -30.312611383848 -15618.2421875 -15337.87109375 280.37109375 -17630.740234375 -15352.1303710938 2278.60986328125 -15436.0726310421 -14245.2447962262 1190.82783481585 Q4_60-80% AF_0.2-0.4     0
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